Article

HIDEA Syndrome: A rare cause of congenital hypoventilation in a premature infant

2022-04-09

Abstract excerpt

<h4>Background: </h4> HIDEA syndrome is a rare and novel disease characterised by hypotonia, hypoventilation, intellectual disability, epilepsy and eye abnormalities. Diagnosis is made by genetic testing with exclusion of other causes of hypoventilation. We present a case of a neonate born premature to a pair of consanguineous parents with an atypical course of bronchopulmonary dysplasia subsequently diagnosed wit...

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Literature Corpus work: b6a40fc0-40bb-5b2c-999c-c6cfce250476
DOI: 10.22541/au.164949306.60650518/v1

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